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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGL Gene

protein-coding   GIFtS: 67
GCID: GC01P100315

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

(Previous names: amylo-1, 6-glucosidase, 4-alpha-glucanotransferase )
 Explore 16 diseases affiliated with
AGL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AGL    

Aliases
for AGL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase1 2
GDE2 3 5
Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase1 2
Glycogen Debrancher2 3
Glycogen Debranching Enzyme2

External Ids:    HGNC: 3211   Entrez Gene: 1782   Ensembl: ENSG000001626887   OMIM: 6108605   UniProtKB: P355733   

Export aliases for AGL gene to outside databases

Previous GC identifers: GC01P101113 GC01P099441 GC01P099606 GC01P099778 GC01P100027 GC01P100088 GC01P098438


Summaries
for AGL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AGL:
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two
independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity
and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a
wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing.
Alternatively spliced transcripts encoding different isoforms have been described. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and
amylo-1,6-glucosidase in glycogen degradation

Gene Wiki entry for AGL (Glycogen debranching enzyme)


Genomic Views
for AGL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGL gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AGL promoter sequence
   Search SABiosciences Chromatin IP Primers for AGL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p21

AGL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P100315:  view genomic region     (about GC identifiers)

Start:
 100,315,640 bp from pter      End:
 100,389,579 bp from pter
Size:
 73,940 bases      Orientation:
 plus strand

Proteins
for AGL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 (See protein sequence)
Recommended Name: Glycogen debranching enzyme  
Size: 1532 amino acids; 174764 Da
Subunit: Monomer. Interacts with NHLRC1/malin
Subcellular location: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus
Sequence caution: Sequence=BAD92104.1; Type=Erroneous initiation;
Secondary accessions: A6NCX7 A6NEK2 D3DT51 P78354 P78544 Q59H92 Q6AZ90 Q9UF08
Alternative splicing: 3 isoforms:  P35573-1   P35573-2   P35573-3   (Ref.2 (AAB48470) sequence is in conflict in position: 4:I->L)

Explore the universe of human proteins at neXtProt for AGL: NX_P35573

Post-translational modifications:

  • The N-terminus is blocked1
  • Ubiquitinated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35573

    • AGL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_000019.2  NP_000633.2  NP_000634.2  NP_000635.2  NP_000636.2  NP_000637.2  

    ENSEMBL proteins: 
     ENSP00000355106   ENSP00000359184   ENSP00000359182   ENSP00000294724   ENSP00000354971  
     ENSP00000354635   ENSP00000359180  
    Reactome Protein details: P35573
    Human Recombinant Protein Products: 
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    Uscn Proteins for AGL

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    AGL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for AGL

    Protein Domains /
    Families
    for AGL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AGL for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR006421 Glycogen_debranch_met
     IPR010401 GDE_C
     IPR017853 Glycoside_hydrolase_SF
     IPR008928 6-hairpin_glycosidase-like
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P35573

    ProtoNet protein and cluster: P35573

    UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
    Similarity: Belongs to the glycogen debranching enzyme family


    Function
    for AGL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
    Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and
    amylo-1,6-glucosidase in glycogen degradation
    Catalytic activity: Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be
    glucose or a (1->4)-alpha-D-glucan
    Catalytic activity: Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin

         Genatlas biochemistry entry for AGL:
    amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle
    specific and four further minor alternatively spliced isoforms

    miRNA
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    hsa-miR-218-2* hsa-miR-513a-3p hsa-miR-876-5p hsa-miR-1179 hsa-miR-1248 hsa-miR-3167 hsa-miR-155 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmid: AGL 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004133glycogen debranching enzyme activity TAS1374391
    GO:00041344-alpha-glucanotransferase activity IBA--
    GO:0004135amylo-alpha-1,6-glucosidase activity IBA--
    GO:0005515protein binding IPI17908927
    GO:0030247polysaccharide binding IEA--


    AGL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AGL:
     Decreased DCP1a protein expres 


    Pathways & Interactions
    for AGL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycogen breakdown (glycogenolysis)
    		Glycogen breakdown (glycogenolysis)1.00
    		Glycogen Metabolism0.35
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Galactose metabolism
    		Glycogen metabolism0.40
    		Glycogen metabolism0.40
    4Glucose metabolism
    		Glucose metabolism1.00
    5MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.47

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AGL
        Glycogen metabolism


    1 GeneGo (Thomson Reuters) Pathway for AGL
        Glycogen metabolism

    1 BioSystems Pathway for AGL 
        Glycogen Metabolism

    4        Reactome Pathways for AGL
        Metabolism of carbohydrates
    Glycogen breakdown (glycogenolysis)
    Metabolism
    Glucose metabolism


    2         Kegg Pathways  (Kegg details for AGL):
        Starch and sucrose metabolism
    Metabolic pathways


    AGL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AGL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/106 Interacting proteins for AGL (P355733 ENSP000002947244) via UniProtKB, MINT, STRING, and/or I2D (see all 106)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2P546463, ENSP000003602904I2D: score=3 STRING: ENSP00000360290
    NHLRC1Q6VVB13, ENSP000003454644I2D: score=2 STRING: ENSP00000345464
    SMAD3P840223, ENSP000003329734I2D: score=2 STRING: ENSP00000332973
    POLR1BQ9H9Y63, ENSP000002633314I2D: score=1 STRING: ENSP00000263331
    PYGLP067373, ENSP000002163924I2D: score=1 STRING: ENSP00000216392
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process ----
    GO:0005978glycogen biosynthetic process IEA--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--


    AGL for ontologies           About GeneDecksing



    Drugs & Compounds
    for AGL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for AGL available from Tocris Bioscience    About this table
    CompoundAction CAS #
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]

    7 HMDB Compounds for AGL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    D-Maltosealpha-Malt sugar (see all 40)69-79-4--
    DextrinCaloreen (see all 10)9004-53-9--
    GlycogenAnimal starch (see all 5)9005-79-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    7 Novoseek chemical compound relationships for AGL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 86.2 224 19951495 (5), 9584265 (4), 19299494 (3), 8954797 (3) (see all 55)
    icodextrin 71.4 2 16567418 (1), 17196294 (1)
    starch 47 4 19884781 (1), 1499031 (1), 19428473 (1), 18499663 (1)
    glucose 19.5 2 8611536 (1), 1991122 (1)
    fluoride 15.2 1 1991122 (1)
    creatinine 13.4 1 15199064 (1)
    lactate 10 1 1293383 (1)

    Search CenterWatch for drugs/clinical trials and news about AGL / GDE 

    Transcripts
    for AGL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for AGL gene (6 alternative transcripts): 
    NM_000028.2  NM_000642.2  NM_000643.2  NM_000644.2  NM_000645.2  NM_000646.2  

    Unigene Cluster for AGL:

    Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    Hs.904  [show with all ESTs]
    Unigene Representative Sequence: NM_000028
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361915(uc001dsi.1) ENST00000370165(uc001dsl.1) ENST00000370163(uc001dsk.1)
    ENST00000294724(uc001dsj.1) ENST00000361302(uc001dsm.1) ENST00000361522(uc001dsn.1)
    ENST00000477753 ENST00000370161

    miRNA
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    hsa-miR-218-2* hsa-miR-513a-3p hsa-miR-876-5p hsa-miR-1179 hsa-miR-1248 hsa-miR-3167 hsa-miR-155 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmid: AGL 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB208867.1 AB621804.1 AK130308.1 BC020705.1 BC057220.1 BC078663.1 M85168.1 U84007.1 
    U84008.1 U84009.1 U84010.1 U84011.1 

    8 DOTS entries:

    DT.95276494  DT.92430323  DT.100793896  DT.92430324  DT.444749  DT.100025294  DT.100793897  DT.121379454 

    24/170 AceView cDNA sequences (see all 170):

    AK130308 BM999394 CA390727 BU595048 AA476828 C05605 BX498417 AW182611 
    C00487 AV682868 BQ022584 BX499961 CF147446 BX092786 AI439128 AL597963 
    BC020705 BX482459 BX500784 BQ962659 BQ217878 BM806841 AU116995 T27720 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AGL (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^
    SP1:                                                                                                                                                            
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -     -                                                                                                                                             

    ExUns: 20 ^ 21 ^ 22
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for AGL

    Expression
    for AGL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAATTGTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AGL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AGL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGL

    SOURCE GeneReport for Unigene cluster: Hs.904

    UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
    Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart
    express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present
    in both liver and muscle

        SABiosciences Expression via Pathway-Focused PCR Array including AGL: 
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    In Situ
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    Orthologs
    for AGL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AGL gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Agl1 , 5 amylo-1,6-glucosidase, 4-alpha-glucanotransferase1, 5 86.16(n)1
    91.91(a)1    		   3 (50.47 cM)5
    775591  NM_001081326.11  NP_001074795.11 
     1167430515 
    chicken
    (Gallus gallus)    		 Aves AGL1 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 78.4(n)
    81.78(a)    		   424474  XM_422317.3  XP_422317.2 
    lizard
    (Anolis carolinensis)    		 Reptilia AGL6
    		 --
    		 80(a)
    		 1 ↔ 1
    		 4(93381565-93444764)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.222182 Xenopus laevis transcribed sequence with moderate similarity more 76.08(n)    48034478 
    zebrafish
    (Danio rerio)    		 Actinopterygii BM573587.12   -- 73.79(n)    BM573587.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG94851 , 3 4-alpha-glucanotransferase3
    CG94851    		 48(a)3
    52.15(n)1
    48.92(a)1    		   57D113
    374351  NM_166444.11  NP_726062.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea R06A4.83
    agl-11    		 Alpha amylase3
    Protein AGL-11    		 43(a)3
    51.07(n)1
    46.24(a)1    		   II(14346529-14353182)3
    1750911  NM_064583.41  NP_496984.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes GDB1(YPR184W)4
    GDB11    		 Glycogen debranching enzyme containing glucanotranferase more4
    Gdb1p1    		 51.36(n)1
    44.26(a)1    		   16(902044-906654)4
    8563141, 4  NP_015510.11, 4 


    ENSEMBL Gene Tree for AGL (if available)
    TreeFam Gene Tree for AGL (if available) 

    Paralogs
    for AGL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for AGL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1380 NCBI SNPs in AGL are shown (see all 1380)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1139941261,2
    		Cpathogenic100316614(+) GTAAAC/TAGATT 9 Q * stg1 ut510--------
    rs1139941281,2
    		Cpathogenic100340950(+) ATGAAC/TGACTG 12 R * stg10--------
    rs1139941291,2
    		Cpathogenic100346885(+) TAAGTA/GGAATC 12 * W stg10--------
    rs1413093291,2
    		--100313692(+) GATCTA/GGGTTC 1 -- us2k10--------
    rs1447265501,2
    		--100313770(+) AGGCAC/TGTGCC 1 -- us2k10--------
    rs1386804491,2
    		--100313910(+) TGGAGA/TCATCC 1 -- us2k10--------
    rs1924555491,2
    		--100313952(+) CTATCC/TTCAAA 1 -- us2k10--------
    rs1417897301,2
    		--100314011(+) CATCAC/GCCCCA 1 -- us2k10--------
    rs1845346311,2
    		--100314024(+) CCCCCA/GACACA 1 -- us2k10--------
    rs1446065671,2
    		--100314140(+) TTTCCC/TATAAA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for AGL (100315640 - 100389579 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AGL
         2 CNVs: 97450 3301
    Human Gene Mutation Database (HGMD): AGL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AGL
    DNA2.0 Custom Variant and Variant Library Synthesis for AGL

    Disorders / Diseases
    for AGL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AGL for disorders           About GeneDecksing

    OMIM gene information: 610860   
    OMIM disorders: 232400  
    UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
  • Defects in AGL are the cause of glycogen storage disease type 3 (GSD3) [MIM:232400]; also known as Forbes
    • disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains.
    Three GSD3 types are recognized: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and
    muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the
    2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 is
    clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy

    16 diseases for AGL:    About MalaCards
    glycogen storage disease    glycogen storage disease type 0    glycogen storage disease iiib    cat-scratch disease
    glycogen storage disease iiia    short stature    liver cirrhosis    hypertrophic cardiomyopathy
    hypoglycemia    hyperlipidemia    metabolic disorders    cardiomyopathy
    myopathy    hepatocellular carcinoma    carcinoma    hepatitis

    4 diseases from the University of Copenhagen DISEASES database for AGL:
    Glycogen storage disease     Finger agnosia     Autosomal recessive disease     Hypoglycemia

    10 Novoseek disease relationships for AGL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease type iii 98.9 69 15542399 (2), 16705713 (2), 1293383 (2), 19299494 (2) (see all 35)
    glycogen storage disease 89.6 10 11378828 (1), 9584265 (1), 17196294 (1), 10982190 (1) (see all 8)
    hepatomegaly 67.2 8 8990006 (1), 18717245 (1), 19951495 (1), 17895567 (1)
    enzyme deficiency 63.3 1 9332391 (1)
    hypoglycemia 61.9 8 8990006 (1), 18717245 (1), 19951495 (1), 17895567 (1)
    myopathy 53.6 1 1580445 (1)
    hyperlipidemia 51.2 3 19951495 (1)
    cardiomyopathy 45.7 4 17895567 (2), 1580445 (1), 18717245 (1)
    short stature 37.2 3 19951495 (1)
    liver cirrhosis 24.6 1 8553356 (1)

    Genetic Association Database (GAD): AGL
    Human Genome Epidemiology (HuGE) Navigator: AGL (3 documents)

    Export disorders for AGL gene to outside databases

    Publications
    for AGL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AGL gene, integrated from 9 sources (see all 90):
    (articles sorted by number of sources associating them with AGL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PubMed id 8755644)1, 4, 9 Shen J....Chen Y.T. (1996)
    2. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PubMed id 8954797)1, 2, 9 Bao Y.... Chen Y.-T. (1996)
    3. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PubMed id 9332391)1, 2, 9 Bao Y.... Chen Y.-T. (1997)
    4. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PubMed id 8990006)1, 4, 9 Shen J....Chen Y.T. (1997)
    5. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PubMed id 11378828)1, 4, 9 Santer R....Schaub J. (2001)
    6. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PubMed id 10982190)1, 2, 9 Okubo M.... Murase T. (2000)
    7. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PubMed id 8702417)1, 4, 9 Okubo M....Murase T. (1996)
    8. Assignment of the human glycogen debrancher gene to chromosome 1p21. (PubMed id 1505983)1, 3, 9 Yang-Feng T.L....Kao F.T. (1992)
    9. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. (PubMed id 17908927)1, 2 Cheng A....Saltiel A.R. (2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for AGL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AGL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 178 HGNC: 321 AceView: AGL Ensembl:ENSG00000162688 euGenes: HUgn178
    ECgene: AGL Kegg: 178 H-InvDB: AGL

    Other Databases showing AGL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AGL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGL

    Intellectual Property
    for AGL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AGL gene:
    Search GeneIP for patents involving AGL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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